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Novel compound heterozygous mu...
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Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.
Manylion Llyfryddiaeth
Prif Awduron:
Mehta, P
,
Mitchell, A
,
Tysoe, C
,
Caswell, R
,
Owens, M
,
Vincent, T
Fformat:
Journal article
Iaith:
English
Cyhoeddwyd:
2012
Daliadau
Disgrifiad
Eitemau Tebyg
Dangos Staff
Eitemau Tebyg
Windswept lower limb deformities in patients with hypophosphataemic rickets
gan: Ali Al Kaissi, et al.
Cyhoeddwyd: (2013-12-01)
Seven novel mutations in the PEX gene indicate molecular heterogeneity for X-linked hypophosphataemic rickets.
gan: Dixon, P, et al.
Cyhoeddwyd: (1996)
Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.
gan: Read, A, et al.
Cyhoeddwyd: (1986)
X-linked hypophosphataemic rickets due to pseudo-exons of the PHEX gene.
gan: Christie, P, et al.
Cyhoeddwyd: (2000)
Bridging markers defining the map position of X linked hypophosphataemic rickets.
gan: Thakker, R, et al.
Cyhoeddwyd: (1987)